ReviewThe Journal of investigative dermatology2012
Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
Review in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 131 citations in OpenAlex.
- Trial
- Epidermolysis Bullosa Classification and Current Approach to Diagnosis.Pediatric dermatology · 2026Review
- Sustained clinical remission of epidermolysis bullosa simplex due to a pathogenic KRT14 variant in a 7-year-old girl.JAAD case reports · 2026Article
- Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis.The Journal of cell biology · 2026Article
- Functional roles of Keratin 6A in disease pathogenesis across cancer and skin disorders.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- Oral health of patients with epidermolysis bullosa compared to healthy controls - a retrospective study from a specialized center.BMC oral health · 2025Article
- Article
- Gas1 regulates embryonic tongue muscle proliferation, differentiation and maturation via alternative pathways to Hedgehog signaling.Development (Cambridge, England) · 2025Article
- A circularly permuted CasRx platform for efficient, site-specific RNA editing.Nature biotechnology · 2025Article
- Schistosoma japonicum leishmanolysin SjLLPi1 facilitates the invasion of cercariae into the host skin.PLoS pathogens · 2025Article
- Revisiting the human umbilical cord epithelium. An atypical epithelial sheath with distinctive features.Cell and tissue research · 2024Article
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.International journal of molecular sciences · 2024Review
- Composite endpoints, including patient reported outcomes, in rare diseases.Orphanet journal of rare diseases · 2023Article
- Polarity signaling balances epithelial contractility and mechanical resistance.Scientific reports · 2023Article
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Severe hyponatremia in an infant with epidermolysis bullosa: a case report.Journal of medical case reports · 2022Article
- A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex.Orphanet journal of rare diseases · 2022Article
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.International journal of molecular sciences · 2021Review
- A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant inGenes · 2021Article
- Cytoskeletal control of early mammalian development.Nature reviews. Molecular cell biology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins that copolymerize to form a pancytoplasmic network of 10 nm filaments in basal keratinocytes of epidermis and related epithelia. Defects in K5-K14 filament network architecture cause basal keratinocytes to become fragile, and account for their rupture upon exposure to mechanical trauma. The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. Since then, continued cross-fertilization between basic science efforts and clinical endeavors has highlighted several additional functional roles for keratin proteins in the skin, suggested new avenues for effective therapies for keratin-based diseases, and expanded our understanding of the remarkable properties of the skin as an organ system.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.